Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1371
MIM: 612732
HGNC: 2321
Ensembl: ENSG00000080819
Variants:
dbSNP: 1371
ClinVar: 1371
TCGA: ENSG00000080819
COSMIC: CPOX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000080819 | ENST00000513674 | D6RER6 |
| ENSG00000080819 | ENST00000647941 | P36551 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166190681 | givosiran | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33991015 | 2021 | TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels. | 13 |
| 33991015 | 2021 | TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels. | 13 |
| 30385147 | 2019 | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | 2 |
| 30385147 | 2019 | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | 2 |
| 24078084 | 2013 | The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. | 2 |
| 24078084 | 2013 | The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. | 2 |
| 21231929 | 2012 | Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. | 6 |
| 22765978 | 2012 | Modification of neurobehavioral effects of mercury by a genetic polymorphism of coproporphyrinogen oxidase in children. | 12 |
| 21231929 | 2012 | Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. | 6 |
| 22765978 | 2012 | Modification of neurobehavioral effects of mercury by a genetic polymorphism of coproporphyrinogen oxidase in children. | 12 |
| 21277781 | 2011 | Normal and abnormal heme biosynthesis. Part 7. Synthesis and metabolism of coproporphyrinogen-III analogues with acetate or butyrate side chains on rings C and D. Development of a modified model for the active site of coproporphyrinogen oxidase. | 2 |
| 22288185 | 2011 | [Polymorphism of TNF gene and CPOX gene in chemical industry workers]. | 0 |
| 21277781 | 2011 | Normal and abnormal heme biosynthesis. Part 7. Synthesis and metabolism of coproporphyrinogen-III analogues with acetate or butyrate side chains on rings C and D. Development of a modified model for the active site of coproporphyrinogen oxidase. | 2 |
| 22288185 | 2011 | [Polymorphism of TNF gene and CPOX gene in chemical industry workers]. | 0 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
CPOX (coproporphyrinogen oxidase)
Atlas Genet Cytogenet Oncol Haematol. 2012-03-01
Online version: http://atlasgeneticsoncology.org/gene/52614/cpox
